A thirteen years old male patient of i was referred to our Dermatology D knees and hands. Patient was blind since birth and diagnosis of “retinitis pigmentosa” Ophthalmology Department. He was investigated and found raised levels of blood sugar, triglycerides, VLDL, TSH, SGOT/PT and kidney functions tests. He was diagnosed as a case of eruptive xanthomas with retinitis pigmentosa in secondary h...

introduction: in 1995, the world health organization (who) estimated that there were 37.1 million blind people worldwide. it has subsequently been reported that 110 million people have severely impaired vision, hence are at great risk of becoming blind. watkins predicted an annual increase of about two million blind worldwide. this study was designed to investigate the causes of blindness and l...

A patient presented with unilateral findings of night blindness shown by impaired rod function and dark adaptation, constricted visual fields with good central acuity, a barely recordable electro-retinographic b-wave, and a unilaterally impaired electro-oculogram. There were none of the pigmentary changes usually associated with retinitis pigmentosa. The unaffected right eye was normal in all r...

Stiles-Crawford functions were obtained from the maculas of 22 patients with different genetic types of retinitis pigmentosa and visual acuity of 20/40 or better. Reduced cone directional sensitivity was seen in the fovea with both focal cone electroretinographic testing and psychophysical testing. Functions from the parafovea determined with psychophysical testing showed either significant fla...

A 48-year-old male patient with diabetes mellitus and retinitis pigmentosa was admitted with complaints of weakness of both lower limbs and urinary incontinence of 1year duration. Fundoscopy was suggestive of retinitis pigmentosa. On admission, the power in the legs was about Grade 2. Plain X-ray showed a sickle-shaped defect of the sacrum scimitar sacrum (Figure 1). MRI showed an anterior pres...

We performed histopathologic and immunofluorescence studies of autopsy eyes from a 73-year-old woman with autosomal dominant retinitis pigmentosa from a family with reduced penetrance. Light microscopic examination showed extensive photoreceptor loss in most regions. In the temporal midperiphery of the retina, there were patches of remaining photoreceptors, some arranged in rosettes. Electron m...

Optical coherence tomography angiography (OCT‐A) is a non‐invasive imaging modality for assessing the vasculature within ocular structures including retina, macula, choroid and optic nerve. OCT‐A has wide range of clinical applications in various optometric conditions which have been independently reported literature. This paper aims to present review current literature on application practice ...

In the past decade, we have witnessed great advances in the identification of genes underlying numerous neurodegenerative diseases and the stark complexity determining genotype-phenotype relationships that lead to the impairment, and ultimately, premature death of neurons. However, significant challenges lie ahead in understanding the pathobiological and spatiotemporal processes triggered by ge...